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| Lysosomal storage disorder v1.46 | MCOLN1 | Sarah Leigh Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV 252650 to Mucolipidosis IV OMIM:252650; mucolipidosis type IV MONDO:0009653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.6 | MCOLN1 | Carol Hardy Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | MCOLN1 | Emma Ashton reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | MCOLN1 | Carol Hardy reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis IV 252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | MCOLN1 |
Ivone Leong gene: MCOLN1 was added gene: MCOLN1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV 252650 |
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